JP6297972B2 - 少量の複合核酸の配列決定 - Google Patents
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| PCT/US2012/033832 WO2012142611A2 (fr) | 2011-04-14 | 2012-04-16 | Séquençage de petites quantités d'acides nucléiques complexes |
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| US10323279B2 (en) | 2012-08-14 | 2019-06-18 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
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| US10876152B2 (en) | 2012-09-04 | 2020-12-29 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
| US10829816B2 (en) | 2012-11-19 | 2020-11-10 | Apton Biosystems, Inc. | Methods of analyte detection |
| EP4012716A1 (fr) | 2012-11-19 | 2022-06-15 | Apton Biosystems, Inc. | Analyse numérique d'analytes moléculaires au moyen d'une détection de molécules individuelles |
| US10533221B2 (en) | 2012-12-14 | 2020-01-14 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| WO2014093676A1 (fr) | 2012-12-14 | 2014-06-19 | 10X Technologies, Inc. | Procédés et systèmes pour le traitement de polynucléotides |
| US10847251B2 (en) | 2013-01-17 | 2020-11-24 | Illumina, Inc. | Genomic infrastructure for on-site or cloud-based DNA and RNA processing and analysis |
| US9483610B2 (en) | 2013-01-17 | 2016-11-01 | Edico Genome, Corp. | Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform |
| US9128861B2 (en) | 2013-01-17 | 2015-09-08 | Personalis, Inc. | Methods and systems for genetic analysis |
| US9792405B2 (en) | 2013-01-17 | 2017-10-17 | Edico Genome, Corp. | Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform |
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| US10068054B2 (en) | 2013-01-17 | 2018-09-04 | Edico Genome, Corp. | Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform |
| CA2899020C (fr) | 2013-02-01 | 2023-10-03 | The Regents Of The University Of California | Procedes pour assemblage du genome et phasage d'haplotype |
| US9411930B2 (en) | 2013-02-01 | 2016-08-09 | The Regents Of The University Of California | Methods for genome assembly and haplotype phasing |
| US9328382B2 (en) | 2013-03-15 | 2016-05-03 | Complete Genomics, Inc. | Multiple tagging of individual long DNA fragments |
| EP2986741B1 (fr) | 2013-04-17 | 2019-07-24 | Agency For Science, Technology And Research | Méthode de génération de lectures de séquences étendues |
| US9898575B2 (en) | 2013-08-21 | 2018-02-20 | Seven Bridges Genomics Inc. | Methods and systems for aligning sequences |
| US9116866B2 (en) | 2013-08-21 | 2015-08-25 | Seven Bridges Genomics Inc. | Methods and systems for detecting sequence variants |
| WO2015027245A1 (fr) * | 2013-08-23 | 2015-02-26 | Complete Genomics, Inc. | Assemblage de novo de fragments longs à l'aide de lectures courtes |
| WO2015031689A1 (fr) | 2013-08-30 | 2015-03-05 | Personalis, Inc. | Méthodes et systèmes d'analyse génomique |
| US10395758B2 (en) | 2013-08-30 | 2019-08-27 | 10X Genomics, Inc. | Sequencing methods |
| US10468121B2 (en) | 2013-10-01 | 2019-11-05 | Complete Genomics, Inc. | Phasing and linking processes to identify variations in a genome |
| WO2015051275A1 (fr) | 2013-10-03 | 2015-04-09 | Personalis, Inc. | Procédés d'analyse de génotypes |
| WO2015058120A1 (fr) | 2013-10-18 | 2015-04-23 | Seven Bridges Genomics Inc. | Procédés et systèmes pour l'alignement de séquences en présence d'éléments de répétition |
| WO2015058095A1 (fr) | 2013-10-18 | 2015-04-23 | Seven Bridges Genomics Inc. | Procédés et systèmes de quantification d'alignement de séquences |
| SG11201603039PA (en) | 2013-10-18 | 2016-05-30 | Seven Bridges Genomics Inc | Methods and systems for identifying disease-induced mutations |
| SG11201602903XA (en) | 2013-10-18 | 2016-05-30 | Seven Bridges Genomics Inc | Methods and systems for genotyping genetic samples |
| US9092402B2 (en) | 2013-10-21 | 2015-07-28 | Seven Bridges Genomics Inc. | Systems and methods for using paired-end data in directed acyclic structure |
| US9824068B2 (en) | 2013-12-16 | 2017-11-21 | 10X Genomics, Inc. | Methods and apparatus for sorting data |
| ES2660989T3 (es) | 2013-12-28 | 2018-03-27 | Guardant Health, Inc. | Métodos y sistemas para detectar variantes genéticas |
| JP2017510871A (ja) * | 2014-01-10 | 2017-04-13 | セブン ブリッジズ ジェノミクス インコーポレイテッド | リードマッピングにおける公知の対立遺伝子の使用のためのシステム及び方法 |
| US20150199476A1 (en) * | 2014-01-16 | 2015-07-16 | Electronics And Telecommunications Research Institute | Method of analyzing genome by genome analyzing device |
| US9817944B2 (en) | 2014-02-11 | 2017-11-14 | Seven Bridges Genomics Inc. | Systems and methods for analyzing sequence data |
| AU2015243445B2 (en) | 2014-04-10 | 2020-05-28 | 10X Genomics, Inc. | Fluidic devices, systems, and methods for encapsulating and partitioning reagents, and applications of same |
| AU2015279546B2 (en) * | 2014-06-26 | 2021-04-08 | 10X Genomics, Inc. | Processes and systems for nucleic acid sequence assembly |
| WO2015200869A1 (fr) * | 2014-06-26 | 2015-12-30 | 10X Genomics, Inc. | Analyse de séquences d'acides nucléiques |
| EP4219710A3 (fr) | 2014-08-01 | 2023-08-16 | Dovetail Genomics, LLC | Marquage d'acides nucléiques pour l'assemblage de séquences |
| CN107408043A (zh) | 2014-10-14 | 2017-11-28 | 七桥基因公司 | 用于序列流水线中的智能工具的系统和方法 |
| CN114807307A (zh) | 2014-10-29 | 2022-07-29 | 10X 基因组学有限公司 | 用于靶核酸测序的方法和组合物 |
| EP3212808B1 (fr) | 2014-10-30 | 2022-03-02 | Personalis, Inc. | Procédés d'utilisation du mosaïcisme dans des acides nucléiques prélevés de façon distale par rapport à leur origine |
| US9975122B2 (en) | 2014-11-05 | 2018-05-22 | 10X Genomics, Inc. | Instrument systems for integrated sample processing |
| US10900065B2 (en) | 2014-11-14 | 2021-01-26 | University Of Washington | Methods and kits for labeling cellular molecules |
| US10233490B2 (en) | 2014-11-21 | 2019-03-19 | Metabiotech Corporation | Methods for assembling and reading nucleic acid sequences from mixed populations |
| US9857328B2 (en) | 2014-12-18 | 2018-01-02 | Agilome, Inc. | Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same |
| EP3235010A4 (fr) | 2014-12-18 | 2018-08-29 | Agilome, Inc. | Transistor à effet de champ chimiquement sensible |
| US10006910B2 (en) | 2014-12-18 | 2018-06-26 | Agilome, Inc. | Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same |
| US9618474B2 (en) | 2014-12-18 | 2017-04-11 | Edico Genome, Inc. | Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids |
| US10020300B2 (en) | 2014-12-18 | 2018-07-10 | Agilome, Inc. | Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids |
| US9859394B2 (en) | 2014-12-18 | 2018-01-02 | Agilome, Inc. | Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids |
| CN112126675B (zh) | 2015-01-12 | 2022-09-09 | 10X基因组学有限公司 | 用于制备核酸测序文库的方法和系统以及用其制备的文库 |
| WO2016115273A1 (fr) | 2015-01-13 | 2016-07-21 | 10X Genomics, Inc. | Systèmes et procédés de visualisation d'informations de variation structurelle et de phasage |
| CN107002153B (zh) * | 2015-02-04 | 2020-10-27 | 深圳华大生命科学研究院 | 一种构建长片段测序文库的方法 |
| EP3256606B1 (fr) | 2015-02-09 | 2019-05-22 | 10X Genomics, Inc. | Systèmes et procédés pour déterminer la variation structurale |
| WO2016134034A1 (fr) | 2015-02-17 | 2016-08-25 | Dovetail Genomics Llc | Assemblage de séquences d'acide nucléique |
| EP4286516A3 (fr) | 2015-02-24 | 2024-03-06 | 10X Genomics, Inc. | Procédés et systèmes de traitement de cloisonnement |
| EP3262188B1 (fr) | 2015-02-24 | 2021-05-05 | 10X Genomics, Inc. | Procédés pour la couverture ciblée de séquences d'acides nucléiques |
| US10192026B2 (en) | 2015-03-05 | 2019-01-29 | Seven Bridges Genomics Inc. | Systems and methods for genomic pattern analysis |
| US9940266B2 (en) | 2015-03-23 | 2018-04-10 | Edico Genome Corporation | Method and system for genomic visualization |
| WO2016154540A1 (fr) | 2015-03-26 | 2016-09-29 | Dovetail Genomics Llc | Conservation de la liaison physique dans le stockage d'adn |
| US10275567B2 (en) | 2015-05-22 | 2019-04-30 | Seven Bridges Genomics Inc. | Systems and methods for haplotyping |
| US10793895B2 (en) | 2015-08-24 | 2020-10-06 | Seven Bridges Genomics Inc. | Systems and methods for epigenetic analysis |
| US10724110B2 (en) | 2015-09-01 | 2020-07-28 | Seven Bridges Genomics Inc. | Systems and methods for analyzing viral nucleic acids |
| US10584380B2 (en) | 2015-09-01 | 2020-03-10 | Seven Bridges Genomics Inc. | Systems and methods for mitochondrial analysis |
| WO2017044609A1 (fr) | 2015-09-08 | 2017-03-16 | Cold Spring Harbor Laboratory | Détermination du nombre de copies génétiques au moyen d'un séquençage multiplex à haut débit de nucléotides smash |
| US11347704B2 (en) | 2015-10-16 | 2022-05-31 | Seven Bridges Genomics Inc. | Biological graph or sequence serialization |
| EP3365445B1 (fr) | 2015-10-19 | 2023-05-31 | Dovetail Genomics, LLC | Procédés d'assemblage de génomes, phasage d'haplotypes et détection d'acide nucléique indépendant cible |
| US20170141793A1 (en) * | 2015-11-13 | 2017-05-18 | Microsoft Technology Licensing, Llc | Error correction for nucleotide data stores |
| US11371094B2 (en) | 2015-11-19 | 2022-06-28 | 10X Genomics, Inc. | Systems and methods for nucleic acid processing using degenerate nucleotides |
| US10853130B1 (en) * | 2015-12-02 | 2020-12-01 | Color Genomics, Inc. | Load balancing and conflict processing in workflow with task dependencies |
| WO2017096158A1 (fr) | 2015-12-04 | 2017-06-08 | 10X Genomics, Inc. | Procédés et compositions pour l'analyse d'acide nucléique |
| EP3390668A4 (fr) | 2015-12-17 | 2020-04-01 | Guardant Health, Inc. | Procédés de détermination du nombre de copies du gène tumoral par analyse d'adn acellulaire |
| US20170199960A1 (en) | 2016-01-07 | 2017-07-13 | Seven Bridges Genomics Inc. | Systems and methods for adaptive local alignment for graph genomes |
| US10068183B1 (en) | 2017-02-23 | 2018-09-04 | Edico Genome, Corp. | Bioinformatics systems, apparatuses, and methods executed on a quantum processing platform |
| US20170270245A1 (en) | 2016-01-11 | 2017-09-21 | Edico Genome, Corp. | Bioinformatics systems, apparatuses, and methods for performing secondary and/or tertiary processing |
| US10364468B2 (en) | 2016-01-13 | 2019-07-30 | Seven Bridges Genomics Inc. | Systems and methods for analyzing circulating tumor DNA |
| US10460829B2 (en) | 2016-01-26 | 2019-10-29 | Seven Bridges Genomics Inc. | Systems and methods for encoding genetic variation for a population |
| SG11201806757XA (en) | 2016-02-11 | 2018-09-27 | 10X Genomics Inc | Systems, methods, and media for de novo assembly of whole genome sequence data |
| EP3420108A4 (fr) | 2016-02-23 | 2019-11-06 | Dovetail Genomics LLC | Production d'ensembles de lecture en phase servant à l'assemblage du génome et la mise en phase d'haplotype |
| US10262102B2 (en) | 2016-02-24 | 2019-04-16 | Seven Bridges Genomics Inc. | Systems and methods for genotyping with graph reference |
| WO2017197338A1 (fr) | 2016-05-13 | 2017-11-16 | 10X Genomics, Inc. | Systèmes microfluidiques et procédés d'utilisation |
| AU2017263810B2 (en) | 2016-05-13 | 2023-08-17 | Dovetail Genomics Llc | Recovering long-range linkage information from preserved samples |
| WO2017201081A1 (fr) | 2016-05-16 | 2017-11-23 | Agilome, Inc. | Dispositifs à fet au graphène, systèmes et leurs méthodes d'utilisation pour le séquençage d'acides nucléiques |
| US10790044B2 (en) | 2016-05-19 | 2020-09-29 | Seven Bridges Genomics Inc. | Systems and methods for sequence encoding, storage, and compression |
| US11299783B2 (en) | 2016-05-27 | 2022-04-12 | Personalis, Inc. | Methods and systems for genetic analysis |
| WO2017210102A1 (fr) * | 2016-06-01 | 2017-12-07 | Institute For Systems Biology | Procédés et système pour générer et comparer des ensembles réduits de données génomiques |
| US10600499B2 (en) | 2016-07-13 | 2020-03-24 | Seven Bridges Genomics Inc. | Systems and methods for reconciling variants in sequence data relative to reference sequence data |
| US11289177B2 (en) | 2016-08-08 | 2022-03-29 | Seven Bridges Genomics, Inc. | Computer method and system of identifying genomic mutations using graph-based local assembly |
| US11250931B2 (en) | 2016-09-01 | 2022-02-15 | Seven Bridges Genomics Inc. | Systems and methods for detecting recombination |
| US10319465B2 (en) | 2016-11-16 | 2019-06-11 | Seven Bridges Genomics Inc. | Systems and methods for aligning sequences to graph references |
| CN108103052B (zh) * | 2016-11-24 | 2021-05-07 | 浙江安诺优达生物科技有限公司 | 提高基因组覆盖度的单细胞全基因组扩增及文库构建方法 |
| CN108121897B (zh) * | 2016-11-29 | 2020-05-08 | 华为技术有限公司 | 一种基因组变异检测方法及检测装置 |
| US10550429B2 (en) | 2016-12-22 | 2020-02-04 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US10815525B2 (en) | 2016-12-22 | 2020-10-27 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US10011872B1 (en) | 2016-12-22 | 2018-07-03 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| EP3545089B1 (fr) | 2017-01-30 | 2022-03-09 | 10X Genomics, Inc. | Procédés et systèmes de codage à barres de cellules individuelles sur la base de gouttelettes |
| US10995333B2 (en) | 2017-02-06 | 2021-05-04 | 10X Genomics, Inc. | Systems and methods for nucleic acid preparation |
| US10689684B2 (en) | 2017-02-14 | 2020-06-23 | Microsoft Technology Licensing, Llc | Modifications to polynucleotides for sequencing |
| US11347844B2 (en) | 2017-03-01 | 2022-05-31 | Seven Bridges Genomics, Inc. | Data security in bioinformatic sequence analysis |
| US10726110B2 (en) | 2017-03-01 | 2020-07-28 | Seven Bridges Genomics, Inc. | Watermarking for data security in bioinformatic sequence analysis |
| US10930370B2 (en) | 2017-03-03 | 2021-02-23 | Microsoft Technology Licensing, Llc | Polynucleotide sequencer tuned to artificial polynucleotides |
| CN114921537A (zh) | 2017-03-17 | 2022-08-19 | 雅普顿生物系统公司 | 测序和高分辨率成像 |
| EP3625715A4 (fr) | 2017-05-19 | 2021-03-17 | 10X Genomics, Inc. | Systèmes et procédés d'analyse d'ensembles de données |
| SG11201901822QA (en) | 2017-05-26 | 2019-03-28 | 10X Genomics Inc | Single cell analysis of transposase accessible chromatin |
| US10400235B2 (en) | 2017-05-26 | 2019-09-03 | 10X Genomics, Inc. | Single cell analysis of transposase accessible chromatin |
| CN111386351A (zh) | 2017-09-22 | 2020-07-07 | 华盛顿大学 | 细胞分子的原位组合标记 |
| US10837047B2 (en) | 2017-10-04 | 2020-11-17 | 10X Genomics, Inc. | Compositions, methods, and systems for bead formation using improved polymers |
| WO2019084043A1 (fr) | 2017-10-26 | 2019-05-02 | 10X Genomics, Inc. | Méthodes et systèmes de préparation d'acide nucléique et d'analyse de chromatine |
| EP4241882A3 (fr) | 2017-10-27 | 2023-12-06 | 10X Genomics, Inc. | Procédés de préparation et d'analyse d'échantillons |
| SG11201913654QA (en) | 2017-11-15 | 2020-01-30 | 10X Genomics Inc | Functionalized gel beads |
| US10829815B2 (en) | 2017-11-17 | 2020-11-10 | 10X Genomics, Inc. | Methods and systems for associating physical and genetic properties of biological particles |
| WO2019108851A1 (fr) | 2017-11-30 | 2019-06-06 | 10X Genomics, Inc. | Systèmes et procédés de préparation et d'analyse d'acides nucléiques |
| EP3752832A1 (fr) | 2018-02-12 | 2020-12-23 | 10X Genomics, Inc. | Procédés de caractérisation d'analytes multiples à partir de cellules individuelles ou de populations cellulaires |
| US11639928B2 (en) | 2018-02-22 | 2023-05-02 | 10X Genomics, Inc. | Methods and systems for characterizing analytes from individual cells or cell populations |
| WO2019195166A1 (fr) | 2018-04-06 | 2019-10-10 | 10X Genomics, Inc. | Systèmes et procédés de contrôle de qualité dans un traitement de cellules uniques |
| US11814750B2 (en) | 2018-05-31 | 2023-11-14 | Personalis, Inc. | Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples |
| US10801064B2 (en) | 2018-05-31 | 2020-10-13 | Personalis, Inc. | Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples |
| US11932899B2 (en) | 2018-06-07 | 2024-03-19 | 10X Genomics, Inc. | Methods and systems for characterizing nucleic acid molecules |
| US11703427B2 (en) | 2018-06-25 | 2023-07-18 | 10X Genomics, Inc. | Methods and systems for cell and bead processing |
| IL296738A (en) * | 2018-07-11 | 2022-11-01 | Illumina Inc | A framework based on deep learning for the purpose of identifying patterns of sequences that cause |
| CN110021351B (zh) * | 2018-07-19 | 2023-04-28 | 深圳华大生命科学研究院 | 分析碱基连锁强度以及基因分型方法和系统 |
| US20200032335A1 (en) | 2018-07-27 | 2020-01-30 | 10X Genomics, Inc. | Systems and methods for metabolome analysis |
| CA3107376A1 (fr) | 2018-08-08 | 2020-02-13 | Inivata Ltd. | Procede de sequencage a l'aide d'une pcr multiplex a replication variable |
| EP3853382A4 (fr) | 2018-09-19 | 2022-06-22 | Apton Biosystems, Inc. | Couches d'analyte tassées de manière dense et procédés de détection |
| US11459607B1 (en) | 2018-12-10 | 2022-10-04 | 10X Genomics, Inc. | Systems and methods for processing-nucleic acid molecules from a single cell using sequential co-partitioning and composite barcodes |
| TWI725686B (zh) | 2018-12-26 | 2021-04-21 | 財團法人工業技術研究院 | 用於產生液珠的管狀結構及液珠產生方法 |
| US11845983B1 (en) | 2019-01-09 | 2023-12-19 | 10X Genomics, Inc. | Methods and systems for multiplexing of droplet based assays |
| CN113557572A (zh) * | 2019-01-25 | 2021-10-26 | 加利福尼亚太平洋生物科学股份有限公司 | 基于图的映射核酸片段的系统和方法 |
| US20220195624A1 (en) | 2019-01-29 | 2022-06-23 | Mgi Tech Co., Ltd. | High coverage stlfr |
| US11467153B2 (en) | 2019-02-12 | 2022-10-11 | 10X Genomics, Inc. | Methods for processing nucleic acid molecules |
| US11851683B1 (en) | 2019-02-12 | 2023-12-26 | 10X Genomics, Inc. | Methods and systems for selective analysis of cellular samples |
| WO2020168013A1 (fr) | 2019-02-12 | 2020-08-20 | 10X Genomics, Inc. | Procédés de traitement de molécules d'acides nucléiques |
| US11655499B1 (en) | 2019-02-25 | 2023-05-23 | 10X Genomics, Inc. | Detection of sequence elements in nucleic acid molecules |
| CN113767178A (zh) | 2019-03-11 | 2021-12-07 | 10X基因组学有限公司 | 用于处理光学标签化珠粒的系统和方法 |
| US11347965B2 (en) * | 2019-03-21 | 2022-05-31 | Illumina, Inc. | Training data generation for artificial intelligence-based sequencing |
| US11210554B2 (en) | 2019-03-21 | 2021-12-28 | Illumina, Inc. | Artificial intelligence-based generation of sequencing metadata |
| US11593649B2 (en) | 2019-05-16 | 2023-02-28 | Illumina, Inc. | Base calling using convolutions |
| AU2020319063A1 (en) * | 2019-07-23 | 2022-02-24 | Memorial Sloan Kettering Cancer Center | Managing and accessing experiment data using referential identifiers |
| WO2021126896A1 (fr) * | 2019-12-16 | 2021-06-24 | Ohio State Innovation Foundation | Plateforme de diagnostic de séquençage de nouvelle génération et procédés associés |
| KR20220143854A (ko) | 2020-02-20 | 2022-10-25 | 일루미나, 인코포레이티드 | 인공 지능 기반 다-대-다 염기 호출 |
| US11851700B1 (en) | 2020-05-13 | 2023-12-26 | 10X Genomics, Inc. | Methods, kits, and compositions for processing extracellular molecules |
| WO2023012521A1 (fr) * | 2021-08-05 | 2023-02-09 | Inivata Limited | Procédé hautement sensible pour détecter l'adn cancéreux dans un échantillon |
| WO2022029688A1 (fr) * | 2020-08-05 | 2022-02-10 | Inivata Ltd. | Méthode hautement sensible de détection d'adn de cancer dans un échantillon |
| CN112233741B (zh) * | 2020-09-30 | 2024-03-01 | 吾征智能技术(北京)有限公司 | 一种基于聚类的文本分类系统、设备、存储介质 |
| EP4298244A1 (fr) | 2021-02-23 | 2024-01-03 | 10X Genomics, Inc. | Analyse à base de sonde d'acides nucléiques et de protéines |
| US20220336054A1 (en) | 2021-04-15 | 2022-10-20 | Illumina, Inc. | Deep Convolutional Neural Networks to Predict Variant Pathogenicity using Three-Dimensional (3D) Protein Structures |
| US20220336052A1 (en) * | 2021-04-19 | 2022-10-20 | University Of Utah Research Foundation | Systems and methods for facilitating rapid genome sequence analysis |
| EP4334476A1 (fr) * | 2021-05-05 | 2024-03-13 | The Board of Trustees of the Leland Stanford Junior University | Procédés et systèmes pour analyser des molécules d'acide nucléique |
| CN114242167B (zh) * | 2021-12-10 | 2024-03-26 | 天津金匙医学科技有限公司 | 一种宏基因组血液样本绝对定量的产品、方法及其应用 |
Family Cites Families (177)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US4994373A (en) | 1983-01-27 | 1991-02-19 | Enzo Biochem, Inc. | Method and structures employing chemically-labelled polynucleotide probes |
| US4719179A (en) | 1984-11-30 | 1988-01-12 | Pharmacia P-L Biochemicals, Inc. | Six base oligonucleotide linkers and methods for their use |
| US4883750A (en) | 1984-12-13 | 1989-11-28 | Applied Biosystems, Inc. | Detection of specific sequences in nucleic acids |
| US5525464A (en) | 1987-04-01 | 1996-06-11 | Hyseq, Inc. | Method of sequencing by hybridization of oligonucleotide probes |
| US5202231A (en) | 1987-04-01 | 1993-04-13 | Drmanac Radoje T | Method of sequencing of genomes by hybridization of oligonucleotide probes |
| US6270961B1 (en) | 1987-04-01 | 2001-08-07 | Hyseq, Inc. | Methods and apparatus for DNA sequencing and DNA identification |
| US5124246A (en) | 1987-10-15 | 1992-06-23 | Chiron Corporation | Nucleic acid multimers and amplified nucleic acid hybridization assays using same |
| US5091302A (en) | 1989-04-27 | 1992-02-25 | The Blood Center Of Southeastern Wisconsin, Inc. | Polymorphism of human platelet membrane glycoprotein iiia and diagnostic and therapeutic applications thereof |
| US6346413B1 (en) | 1989-06-07 | 2002-02-12 | Affymetrix, Inc. | Polymer arrays |
| US5800992A (en) | 1989-06-07 | 1998-09-01 | Fodor; Stephen P.A. | Method of detecting nucleic acids |
| US6379895B1 (en) | 1989-06-07 | 2002-04-30 | Affymetrix, Inc. | Photolithographic and other means for manufacturing arrays |
| US5744101A (en) | 1989-06-07 | 1998-04-28 | Affymax Technologies N.V. | Photolabile nucleoside protecting groups |
| US5143854A (en) | 1989-06-07 | 1992-09-01 | Affymax Technologies N.V. | Large scale photolithographic solid phase synthesis of polypeptides and receptor binding screening thereof |
| US5427930A (en) | 1990-01-26 | 1995-06-27 | Abbott Laboratories | Amplification of target nucleic acids using gap filling ligase chain reaction |
| CA2036946C (fr) | 1990-04-06 | 2001-10-16 | Kenneth V. Deugau | Molecules de liaison pour indexation |
| JP3080178B2 (ja) | 1991-02-18 | 2000-08-21 | 東洋紡績株式会社 | 核酸配列の増幅方法およびそのための試薬キット |
| US5426180A (en) | 1991-03-27 | 1995-06-20 | Research Corporation Technologies, Inc. | Methods of making single-stranded circular oligonucleotides |
| JP3085409B2 (ja) | 1991-03-29 | 2000-09-11 | 東洋紡績株式会社 | 標的核酸配列の検出方法およびそのための試薬キット |
| US5474796A (en) | 1991-09-04 | 1995-12-12 | Protogene Laboratories, Inc. | Method and apparatus for conducting an array of chemical reactions on a support surface |
| US6589726B1 (en) | 1991-09-04 | 2003-07-08 | Metrigen, Inc. | Method and apparatus for in situ synthesis on a solid support |
| CZ291877B6 (cs) | 1991-09-24 | 2003-06-18 | Keygene N.V. | Způsob amplifikace přinejmenším jednoho restrikčního fragmentu z výchozí DNA a způsob přípravy sestavy amplifikovaných restrikčních fragmentů |
| US5632957A (en) | 1993-11-01 | 1997-05-27 | Nanogen | Molecular biological diagnostic systems including electrodes |
| US5403708A (en) | 1992-07-06 | 1995-04-04 | Brennan; Thomas M. | Methods and compositions for determining the sequence of nucleic acids |
| GB9214873D0 (en) | 1992-07-13 | 1992-08-26 | Medical Res Council | Process for categorising nucleotide sequence populations |
| WO1994003624A1 (fr) | 1992-08-04 | 1994-02-17 | Auerbach Jeffrey I | Procedes d'amplification isothermique de molecules d'acide nucleique |
| US6261808B1 (en) | 1992-08-04 | 2001-07-17 | Replicon, Inc. | Amplification of nucleic acid molecules via circular replicons |
| US5834202A (en) | 1992-08-04 | 1998-11-10 | Replicon, Inc. | Methods for the isothermal amplification of nucleic acid molecules |
| US6096880A (en) | 1993-04-15 | 2000-08-01 | University Of Rochester | Circular DNA vectors for synthesis of RNA and DNA |
| US6077668A (en) | 1993-04-15 | 2000-06-20 | University Of Rochester | Highly sensitive multimeric nucleic acid probes |
| US5714320A (en) | 1993-04-15 | 1998-02-03 | University Of Rochester | Rolling circle synthesis of oligonucleotides and amplification of select randomized circular oligonucleotides |
| US6401267B1 (en) | 1993-09-27 | 2002-06-11 | Radoje Drmanac | Methods and compositions for efficient nucleic acid sequencing |
| UA48119C2 (uk) | 1993-09-27 | 2002-08-15 | Арч Девелопмент Корп. | Спосіб визначення послідовності молекули нуклеїнової кислоти (варіанти) та набір для використання при визначенні послідовності нуклеїнової кислоти |
| SE9400522D0 (sv) | 1994-02-16 | 1994-02-16 | Ulf Landegren | Method and reagent for detecting specific nucleotide sequences |
| US5641658A (en) | 1994-08-03 | 1997-06-24 | Mosaic Technologies, Inc. | Method for performing amplification of nucleic acid with two primers bound to a single solid support |
| US5710000A (en) | 1994-09-16 | 1998-01-20 | Affymetrix, Inc. | Capturing sequences adjacent to Type-IIs restriction sites for genomic library mapping |
| US6013445A (en) | 1996-06-06 | 2000-01-11 | Lynx Therapeutics, Inc. | Massively parallel signature sequencing by ligation of encoded adaptors |
| FR2726286B1 (fr) | 1994-10-28 | 1997-01-17 | Genset Sa | Procede d'amplification d'acides nucleiques en phase solide et trousse de reactifs utile pour la mise en oeuvre de ce procede |
| US5866337A (en) | 1995-03-24 | 1999-02-02 | The Trustees Of Columbia University In The City Of New York | Method to detect mutations in a nucleic acid using a hybridization-ligation procedure |
| US5750341A (en) | 1995-04-17 | 1998-05-12 | Lynx Therapeutics, Inc. | DNA sequencing by parallel oligonucleotide extensions |
| US5648245A (en) | 1995-05-09 | 1997-07-15 | Carnegie Institution Of Washington | Method for constructing an oligonucleotide concatamer library by rolling circle replication |
| EP0862656B1 (fr) | 1995-11-21 | 2001-03-07 | Yale University | Amplication et detection de segments unimoleculaires |
| US5854033A (en) | 1995-11-21 | 1998-12-29 | Yale University | Rolling circle replication reporter systems |
| DE69627698T2 (de) | 1995-12-05 | 2004-01-15 | Jorn Erland Koch | Eine in kaskaden verlaufende vervielfältigungsreaktion von nukleinsäuren |
| US5851804A (en) | 1996-05-06 | 1998-12-22 | Apollon, Inc. | Chimeric kanamycin resistance gene |
| US5935793A (en) | 1996-09-27 | 1999-08-10 | The Chinese University Of Hong Kong | Parallel polynucleotide sequencing method using tagged primers |
| GB9620209D0 (en) | 1996-09-27 | 1996-11-13 | Cemu Bioteknik Ab | Method of sequencing DNA |
| US6309824B1 (en) | 1997-01-16 | 2001-10-30 | Hyseq, Inc. | Methods for analyzing a target nucleic acid using immobilized heterogeneous mixtures of oligonucleotide probes |
| US6297006B1 (en) | 1997-01-16 | 2001-10-02 | Hyseq, Inc. | Methods for sequencing repetitive sequences and for determining the order of sequence subfragments |
| US5994068A (en) | 1997-03-11 | 1999-11-30 | Wisconsin Alumni Research Foundation | Nucleic acid indexing |
| JP2001517948A (ja) | 1997-04-01 | 2001-10-09 | グラクソ、グループ、リミテッド | 核酸配列決定法 |
| US5888737A (en) | 1997-04-15 | 1999-03-30 | Lynx Therapeutics, Inc. | Adaptor-based sequence analysis |
| US20040229221A1 (en) | 1997-05-08 | 2004-11-18 | Trustees Of Columbia University In The City Of New York | Method to detect mutations in a nucleic acid using a hybridization-ligation procedure |
| US6124120A (en) | 1997-10-08 | 2000-09-26 | Yale University | Multiple displacement amplification |
| AU737174B2 (en) | 1997-10-10 | 2001-08-09 | President & Fellows Of Harvard College | Replica amplification of nucleic acid arrays |
| US6136537A (en) | 1998-02-23 | 2000-10-24 | Macevicz; Stephen C. | Gene expression analysis |
| DE19812729A1 (de) | 1998-03-24 | 1999-09-30 | Bosch Gmbh Robert | Elektromotor, insbesondere mit einem Lüfterrad zur Bildung eines Axial- oder Radiallüfters |
| EP1066414B1 (fr) | 1998-03-25 | 2009-06-10 | Olink AB | Replication en cercle roulant destinee a des sondes cadenas |
| US6004755A (en) | 1998-04-07 | 1999-12-21 | Incyte Pharmaceuticals, Inc. | Quantitative microarray hybridizaton assays |
| US6284497B1 (en) | 1998-04-09 | 2001-09-04 | Trustees Of Boston University | Nucleic acid arrays and methods of synthesis |
| US6355419B1 (en) | 1998-04-27 | 2002-03-12 | Hyseq, Inc. | Preparation of pools of nucleic acids based on representation in a sample |
| US6255469B1 (en) | 1998-05-06 | 2001-07-03 | New York University | Periodic two and three dimensional nucleic acid structures |
| EP1098996A1 (fr) | 1998-07-20 | 2001-05-16 | Yale University | Procede pour detecter des acides nucleiques au moyen de ligature a mediation par cibles d'amorces bipartites |
| EP1105529B2 (fr) | 1998-07-30 | 2013-05-29 | Illumina Cambridge Limited | Biomolecules en rangees et leur utilisation dans une procedure de sequencage |
| US6787308B2 (en) | 1998-07-30 | 2004-09-07 | Solexa Ltd. | Arrayed biomolecules and their use in sequencing |
| US6232067B1 (en) | 1998-08-17 | 2001-05-15 | The Perkin-Elmer Corporation | Adapter directed expression analysis |
| US6653077B1 (en) | 1998-09-04 | 2003-11-25 | Lynx Therapeutics, Inc. | Method of screening for genetic polymorphism |
| JP2002525049A (ja) | 1998-09-15 | 2002-08-13 | イェール ユニバーシティ | ローリングサークル増幅を用いる分子クローニング |
| US6235502B1 (en) | 1998-09-18 | 2001-05-22 | Molecular Staging Inc. | Methods for selectively isolating DNA using rolling circle amplification |
| US6610492B1 (en) | 1998-10-01 | 2003-08-26 | Variagenics, Inc. | Base-modified nucleotides and cleavage of polynucleotides incorporating them |
| US7272507B2 (en) | 1999-10-26 | 2007-09-18 | Michael Paul Strathmann | Applications of parallel genomic analysis |
| EP1144684B1 (fr) | 1999-01-06 | 2009-08-19 | Callida Genomics, Inc. | Sequencage par hybridation, ameliore, utilisant des groupes de sondes |
| WO2000040755A2 (fr) | 1999-01-06 | 2000-07-13 | Cornell Research Foundation, Inc. | Acceleration de l'identification des polymorphismes d'un nucleotide unique et alignement de clones dans le sequençage genomique |
| GB9901475D0 (en) | 1999-01-22 | 1999-03-17 | Pyrosequencing Ab | A method of DNA sequencing |
| US6514768B1 (en) | 1999-01-29 | 2003-02-04 | Surmodics, Inc. | Replicable probe array |
| US6521428B1 (en) | 1999-04-21 | 2003-02-18 | Genome Technologies, Llc | Shot-gun sequencing and amplification without cloning |
| US6620584B1 (en) | 1999-05-20 | 2003-09-16 | Illumina | Combinatorial decoding of random nucleic acid arrays |
| US6573369B2 (en) | 1999-05-21 | 2003-06-03 | Bioforce Nanosciences, Inc. | Method and apparatus for solid state molecular analysis |
| US7501245B2 (en) | 1999-06-28 | 2009-03-10 | Helicos Biosciences Corp. | Methods and apparatuses for analyzing polynucleotide sequences |
| WO2001009384A2 (fr) | 1999-07-29 | 2001-02-08 | Genzyme Corporation | Analyse en serie d'alterations genetiques |
| US6472156B1 (en) | 1999-08-30 | 2002-10-29 | The University Of Utah | Homogeneous multiplex hybridization analysis by color and Tm |
| US6274320B1 (en) | 1999-09-16 | 2001-08-14 | Curagen Corporation | Method of sequencing a nucleic acid |
| US7244559B2 (en) | 1999-09-16 | 2007-07-17 | 454 Life Sciences Corporation | Method of sequencing a nucleic acid |
| US7211390B2 (en) | 1999-09-16 | 2007-05-01 | 454 Life Sciences Corporation | Method of sequencing a nucleic acid |
| EP1218543A2 (fr) | 1999-09-29 | 2002-07-03 | Solexa Ltd. | Sequen age de polynucleotides |
| US6297016B1 (en) | 1999-10-08 | 2001-10-02 | Applera Corporation | Template-dependent ligation with PNA-DNA chimeric probes |
| US6287778B1 (en) | 1999-10-19 | 2001-09-11 | Affymetrix, Inc. | Allele detection using primer extension with sequence-coded identity tags |
| WO2001040516A2 (fr) | 1999-12-02 | 2001-06-07 | Molecular Staging Inc. | Generation d'adn circulaire a un seul brin a partir de segments lineaires de renaturation automatique |
| WO2001048242A2 (fr) | 1999-12-29 | 2001-07-05 | Mergen Ltd. | Procedes d'amplification et de detection de plusieurs polynucleotides sur un support en phase solide |
| GB0002389D0 (en) | 2000-02-02 | 2000-03-22 | Solexa Ltd | Molecular arrays |
| US6221603B1 (en) | 2000-02-04 | 2001-04-24 | Molecular Dynamics, Inc. | Rolling circle amplification assay for nucleic acid analysis |
| US6913884B2 (en) | 2001-08-16 | 2005-07-05 | Illumina, Inc. | Compositions and methods for repetitive use of genomic DNA |
| US6812005B2 (en) | 2000-02-07 | 2004-11-02 | The Regents Of The University Of California | Nucleic acid detection methods using universal priming |
| EP1990428B1 (fr) | 2000-02-07 | 2010-12-22 | Illumina, Inc. | Procédés de détection d'acide nucléique utilisant un amorçage universel |
| AU2001241723A1 (en) | 2000-02-25 | 2001-09-03 | Affymetrix, Inc. | Methods for multi-stage solid phase amplification of nucleic acids |
| WO2001064831A1 (fr) | 2000-02-29 | 2001-09-07 | The Board Of Trustees Of The Leland Stanford Junior University | Substrat de microreseaux a photodetecteur integre et ses procedes d'utilisation |
| US6413722B1 (en) | 2000-03-22 | 2002-07-02 | Incyte Genomics, Inc. | Polymer coated surfaces for microarray applications |
| WO2001096607A2 (fr) | 2000-06-13 | 2001-12-20 | The Trustees Of Boston University | Utilisation d'analogues nucleotidiques dans l'analyse de melanges d'oligonucleotides et le sequençage hautement multiplexe d'acides nucleiques |
| JP3930227B2 (ja) | 2000-06-14 | 2007-06-13 | ペンタックス株式会社 | 磁気式エンコーダおよび磁気式エンコーダを搭載した測量機 |
| US6783943B2 (en) | 2000-12-20 | 2004-08-31 | The Regents Of The University Of California | Rolling circle amplification detection of RNA and DNA |
| EP1360333A2 (fr) | 2001-01-31 | 2003-11-12 | Ambion, Inc. | Analyse comparative des acides nucleiques par marquage de population |
| EP2465943A3 (fr) | 2001-03-16 | 2012-10-03 | Kalim Mir | Affichage de polymère linéaire |
| GB0114853D0 (en) | 2001-06-18 | 2001-08-08 | Medical Res Council | Happier Mapping |
| US7297778B2 (en) | 2001-07-25 | 2007-11-20 | Affymetrix, Inc. | Complexity management of genomic DNA |
| GB2378245A (en) | 2001-08-03 | 2003-02-05 | Mats Nilsson | Nucleic acid amplification method |
| US6975943B2 (en) | 2001-09-24 | 2005-12-13 | Seqwright, Inc. | Clone-array pooled shotgun strategy for nucleic acid sequencing |
| US6617137B2 (en) | 2001-10-15 | 2003-09-09 | Molecular Staging Inc. | Method of amplifying whole genomes without subjecting the genome to denaturing conditions |
| GB0126887D0 (en) | 2001-11-08 | 2002-01-02 | Univ London | Method for producing and identifying soluble protein domains |
| GB2382137A (en) | 2001-11-20 | 2003-05-21 | Mats Gullberg | Nucleic acid enrichment |
| US7011945B2 (en) | 2001-12-21 | 2006-03-14 | Eastman Kodak Company | Random array of micro-spheres for the analysis of nucleic acids |
| US20040002090A1 (en) | 2002-03-05 | 2004-01-01 | Pascal Mayer | Methods for detecting genome-wide sequence variations associated with a phenotype |
| DE10224339A1 (de) | 2002-05-29 | 2003-12-11 | Axaron Bioscience Ag | Verfahren zur hochparallelen Nukleinsäuresequenzierung |
| US20050019776A1 (en) | 2002-06-28 | 2005-01-27 | Callow Matthew James | Universal selective genome amplification and universal genotyping system |
| US9898578B2 (en) | 2003-04-04 | 2018-02-20 | Agilent Technologies, Inc. | Visualizing expression data on chromosomal graphic schemes |
| AU2003267583A1 (en) | 2002-09-19 | 2004-04-08 | The Chancellor, Master And Scholars Of The University Of Oxford | Molecular arrays and single molecule detection |
| CN1965089A (zh) | 2002-10-11 | 2007-05-16 | 鹿特丹伊拉兹马斯大学 | 用于基于pcr的克隆系研究的核酸扩增引物 |
| US6977153B2 (en) | 2002-12-31 | 2005-12-20 | Qiagen Gmbh | Rolling circle amplification of RNA |
| EP2159285B1 (fr) | 2003-01-29 | 2012-09-26 | 454 Life Sciences Corporation | Procédés d'amplification et de séquençage d'acides nucléiques |
| EP1592810A2 (fr) | 2003-02-12 | 2005-11-09 | Genizon Svenska AB | Procedes et moyen de sequencage de sequences nucleotidiques |
| JP4691014B2 (ja) | 2003-02-26 | 2011-06-01 | カリダ ゲノミクス，インコーポレーテッド | ハイブリダイゼーションによるランダムアレイｄｎａ分析 |
| JP4773338B2 (ja) | 2003-03-07 | 2011-09-14 | ルビコン ゲノミクス， インコーポレイテッド | Ｄｎａ重合プロセスにより生成される全ゲノムおよび全トランスクリプトームライブラリーの増幅および分析 |
| JP4517114B2 (ja) | 2003-03-28 | 2010-08-04 | 国立障害者リハビリテーションセンター総長 | ｃＤＮＡ合成方法 |
| US7745116B2 (en) | 2003-04-08 | 2010-06-29 | Pacific Biosciences Of California, Inc. | Composition and method for nucleic acid sequencing |
| US20040259118A1 (en) | 2003-06-23 | 2004-12-23 | Macevicz Stephen C. | Methods and compositions for nucleic acid sequence analysis |
| US20050100939A1 (en) | 2003-09-18 | 2005-05-12 | Eugeni Namsaraev | System and methods for enhancing signal-to-noise ratios of microarray-based measurements |
| GB0324456D0 (en) | 2003-10-20 | 2003-11-19 | Isis Innovation | Parallel DNA sequencing methods |
| WO2005042781A2 (fr) | 2003-10-31 | 2005-05-12 | Agencourt Personal Genomics Corporation | Procedes de production d'une etiquette appariee a partir d'une sequence d'acides nucleiques et methodes d'utilisation associees |
| US7169560B2 (en) | 2003-11-12 | 2007-01-30 | Helicos Biosciences Corporation | Short cycle methods for sequencing polynucleotides |
| US7972994B2 (en) | 2003-12-17 | 2011-07-05 | Glaxosmithkline Llc | Methods for synthesis of encoded libraries |
| GB0400584D0 (en) | 2004-01-12 | 2004-02-11 | Solexa Ltd | Nucleic acid chacterisation |
| GB0402895D0 (en) | 2004-02-10 | 2004-03-17 | Solexa Ltd | Arrayed polynucleotides |
| ATE463584T1 (de) | 2004-02-19 | 2010-04-15 | Helicos Biosciences Corp | Verfahren zur analyse von polynukleotidsequenzen |
| WO2005082098A2 (fr) | 2004-02-27 | 2005-09-09 | President And Fellows Of Harvard College | Sequençage in situ en fluorescence de billes par la technologie « polony » |
| KR100552706B1 (ko) | 2004-03-12 | 2006-02-20 | 삼성전자주식회사 | 핵산 증폭 방법 및 장치 |
| US20050214840A1 (en) | 2004-03-23 | 2005-09-29 | Xiangning Chen | Restriction enzyme mediated method of multiplex genotyping |
| GB2413796B (en) | 2004-03-25 | 2006-03-29 | Global Genomics Ab | Methods and means for nucleic acid sequencing |
| EP1740719B1 (fr) | 2004-04-09 | 2011-06-22 | Trustees of Boston University | Procede de detection de novo de sequences dans des acides nucleiques et sequencage de cibles par fragmentation |
| US20050260609A1 (en) | 2004-05-24 | 2005-11-24 | Lapidus Stanley N | Methods and devices for sequencing nucleic acids |
| US20070117104A1 (en) | 2005-11-22 | 2007-05-24 | Buzby Philip R | Nucleotide analogs |
| US7635562B2 (en) | 2004-05-25 | 2009-12-22 | Helicos Biosciences Corporation | Methods and devices for nucleic acid sequence determination |
| US7565346B2 (en) * | 2004-05-31 | 2009-07-21 | International Business Machines Corporation | System and method for sequence-based subspace pattern clustering |
| US20060024711A1 (en) | 2004-07-02 | 2006-02-02 | Helicos Biosciences Corporation | Methods for nucleic acid amplification and sequence determination |
| US20060012793A1 (en) | 2004-07-19 | 2006-01-19 | Helicos Biosciences Corporation | Apparatus and methods for analyzing samples |
| US7276720B2 (en) | 2004-07-19 | 2007-10-02 | Helicos Biosciences Corporation | Apparatus and methods for analyzing samples |
| WO2006073504A2 (fr) | 2004-08-04 | 2006-07-13 | President And Fellows Of Harvard College | Sequençage des oscillations dans l'anticodon |
| US20060073506A1 (en) | 2004-09-17 | 2006-04-06 | Affymetrix, Inc. | Methods for identifying biological samples |
| GB0422551D0 (en) | 2004-10-11 | 2004-11-10 | Univ Liverpool | Labelling and sequencing of nucleic acids |
| JP2008520975A (ja) | 2004-11-16 | 2008-06-19 | ヘリコス バイオサイエンシーズ コーポレイション | Ｔｉｒｆ単分子分析および核酸を配列決定する方法 |
| US20060110744A1 (en) | 2004-11-23 | 2006-05-25 | Sampas Nicolas M | Probe design methods and microarrays for comparative genomic hybridization and location analysis |
| CA2596496A1 (fr) | 2005-02-01 | 2006-08-10 | Agencourt Bioscience Corp. | Reactifs, methodes et bibliotheques pour sequencage fonde sur des billes |
| US20060223122A1 (en) | 2005-03-08 | 2006-10-05 | Agnes Fogo | Classifying and predicting glomerulosclerosis using a proteomics approach |
| EP3492602A1 (fr) | 2005-06-15 | 2019-06-05 | Complete Genomics, Inc. | Réseaux de molécules simples pour l'analyse génétique et chimique |
| US20090264299A1 (en) | 2006-02-24 | 2009-10-22 | Complete Genomics, Inc. | High throughput genome sequencing on DNA arrays |
| US20070099212A1 (en) | 2005-07-28 | 2007-05-03 | Timothy Harris | Consecutive base single molecule sequencing |
| WO2007021944A2 (fr) | 2005-08-11 | 2007-02-22 | The J. Craig Venter Institute | Methode de recombinaison in vitro |
| US7666593B2 (en) | 2005-08-26 | 2010-02-23 | Helicos Biosciences Corporation | Single molecule sequencing of captured nucleic acids |
| EP1951900B1 (fr) | 2005-10-07 | 2016-06-15 | Callida Genomics, Inc. | Biopuces à molécules simples autoassemblées et utilisations |
| WO2007120208A2 (fr) | 2005-11-14 | 2007-10-25 | President And Fellows Of Harvard College | Séquençage de l'adn en cercle tournant sur nanogrille |
| EP1975255A2 (fr) | 2006-01-11 | 2008-10-01 | Neocodex, S.L. | Procédé et appareil permettant de déterminer des associations génétiques |
| WO2007087310A2 (fr) | 2006-01-23 | 2007-08-02 | Population Genetics Technologies Ltd. | Analyses d'acides nucléiques au moyen de marques de séquences |
| WO2007092538A2 (fr) | 2006-02-07 | 2007-08-16 | President And Fellows Of Harvard College | Procédés de confection de sondes nucléotidiques pour séquençage et synthèse |
| CA2643700A1 (fr) | 2006-02-24 | 2007-11-22 | Callida Genomics, Inc. | Sequencage genomique a haut debit sur des puces a adn |
| EP1999276A4 (fr) | 2006-03-14 | 2010-08-04 | Genizon Biosciences Inc | Procédés et moyens de séquençage d'acide nucléique |
| EP2007907A2 (fr) | 2006-04-19 | 2008-12-31 | Applera Corporation | Reactifs, procedes et bibliotheques concus pour un sequencage a base de spheres sans gel |
| WO2007133710A2 (fr) | 2006-05-11 | 2007-11-22 | Raindance Technologies, Inc. | Dispositifs microfluidiques et leurs procédés d'utilisation |
| US7910302B2 (en) | 2006-10-27 | 2011-03-22 | Complete Genomics, Inc. | Efficient arrays of amplified polynucleotides |
| US20100112590A1 (en) | 2007-07-23 | 2010-05-06 | The Chinese University Of Hong Kong | Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment |
| US7897344B2 (en) | 2007-11-06 | 2011-03-01 | Complete Genomics, Inc. | Methods and oligonucleotide designs for insertion of multiple adaptors into library constructs |
| US8592150B2 (en) * | 2007-12-05 | 2013-11-26 | Complete Genomics, Inc. | Methods and compositions for long fragment read sequencing |
| US8407554B2 (en) | 2009-02-03 | 2013-03-26 | Complete Genomics, Inc. | Method and apparatus for quantification of DNA sequencing quality and construction of a characterizable model system using Reed-Solomon codes |
| WO2010148039A2 (fr) * | 2009-06-15 | 2010-12-23 | Complete Genomics, Inc. | Procédés et compositions pour un séquençage à lecture de fragments longs |
| EP2480690A2 (fr) | 2009-09-23 | 2012-08-01 | Existence Genetics LLC | Analyse génétique |
| HUE061110T2 (hu) | 2009-11-05 | 2023-05-28 | Univ Hong Kong Chinese | Magzati genomelemzés anyai biológiai mintából |
| CN102725424B (zh) | 2010-01-25 | 2014-07-09 | Rd生物科技公司 | 靶核酸的自折叠扩增 |
| WO2011097424A1 (fr) | 2010-02-05 | 2011-08-11 | Siemens Healthcare Diagnostics Inc. | Procédés pour augmenter le niveau multiplex par externalisation de la référence passive dans des réactions en chaîne de la polymérase |
| PT2363502T (pt) | 2010-03-04 | 2017-05-17 | Miacom Diagnostics Gmbh | Fish multiplex melhorado |
| AU2012242525B2 (en) | 2011-04-14 | 2015-09-17 | Complete Genomics, Inc. | Processing and analysis of complex nucleic acid sequence data |
| WO2012162161A1 (fr) | 2011-05-20 | 2012-11-29 | Phthisis Diagnostics | Système et procédé de détection de microsporidia |
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- 2012-04-16 JP JP2014505406A patent/JP6297972B2/ja active Active
- 2012-04-16 CA CA2832643A patent/CA2832643C/fr active Active
- 2012-04-16 AU AU2012242508A patent/AU2012242508B2/en active Active
- 2012-04-16 CN CN201280029160.8A patent/CN103987857B/zh active Active
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| Publication number | Publication date |
|---|---|
| US9524369B2 (en) | 2016-12-20 |
| WO2012142611A2 (fr) | 2012-10-18 |
| WO2012142611A3 (fr) | 2016-03-03 |
| US20130124100A1 (en) | 2013-05-16 |
| CA2832643A1 (fr) | 2012-10-18 |
| AU2016202139A1 (en) | 2016-06-02 |
| US20150379192A9 (en) | 2015-12-31 |
| JP2014523233A (ja) | 2014-09-11 |
| EP2997157A4 (fr) | 2017-03-29 |
| AU2012242508B2 (en) | 2016-01-07 |
| CN103987857A (zh) | 2014-08-13 |
| HK1201077A1 (en) | 2015-08-21 |
| US20160378916A1 (en) | 2016-12-29 |
| CN103987857B (zh) | 2018-04-27 |
| EP2997157A2 (fr) | 2016-03-23 |
| AU2016202139B2 (en) | 2017-10-26 |
| AU2012242508A1 (en) | 2013-05-02 |
| CA2832643C (fr) | 2022-07-19 |
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